Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713432A>T , CM000681.2:g.6713432A>T | GRCh38 |
| NC_000019.9:g.6713443A>T , CM000681.1:g.6713443A>T | GRCh37 |
| NC_000019.8:g.6664443A>T | NCBI36 |
| NG_009557.1:g.12220T>A , LRG_27:g.12220T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.728T>A | ENSP00000512083.1:p.Leu243Gln | |
| ENST00000695692.1:n.175T>A | ||
| ENST00000245907.11:c.851T>A MANE Select | ENSP00000245907.4:p.Leu284Gln | |
| ENST00000245907.10:c.851T>A | ENSP00000245907.4:p.Leu284Gln | |
| ENST00000595577.1:n.355T>A | ||
| ENST00000597442.5:n.101T>A | ||
| NM_000064.3:c.851T>A | NP_000055.2:p.Leu284Gln | |
| NM_000064.4:c.851T>A MANE Select | NP_000055.2:p.Leu284Gln |